Canonical Allele Identifier: CA2277308

Gene: BTD

Linked Data

• ClinVar Variation Id: 1049760
• ClinVar RCV Id: RCV001356279 ; RCV002476631
• dbSNP Id: rs371116229
• ExAC: 3:15683542 C / G
• gnomAD v2: 3-15683542-C-G
• gnomAD v3: 3-15642035-C-G
• gnomAD v4: 3-15642035-C-G
• MyVariant Identifiers: chr3:g.15683542C>G (hg19) ; chr3:g.15642035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15642035C>G , CM000665.2:g.15642035C>G	GRCh38
NC_000003.11:g.15683542C>G , CM000665.1:g.15683542C>G	GRCh37
NC_000003.10:g.15658546C>G	NCBI36
NG_008019.1:g.45288C>G
NG_008019.2:g.45684C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.377C>G	ENSP00000394277.2:p.Pro126Arg
ENST00000671928.2:c.377C>G	ENSP00000500069.2:p.Pro126Arg
ENST00000672892.2:c.377C>G	ENSP00000499944.2:p.Pro126Arg
ENST00000303498.10:c.377C>G	ENSP00000306477.6:p.Pro126Arg
ENST00000417015.3:c.377C>G	ENSP00000403775.3:p.Pro126Arg
ENST00000427382.2:c.377C>G	ENSP00000397113.2:p.Pro126Arg
ENST00000437172.6:c.377C>G	ENSP00000400995.2:p.Pro126Arg
ENST00000449107.7:c.377C>G	ENSP00000388212.2:p.Pro126Arg
ENST00000467027.6:n.1216C>G
ENST00000482824.2:c.377C>G	ENSP00000494864.1:p.Pro126Arg
ENST00000643237.3:c.377C>G MANE Select	ENSP00000495254.2:p.Pro126Arg
ENST00000646371.1:c.377C>G	ENSP00000495866.1:p.Pro126Arg
ENST00000671928.1:c.143C>G	ENSP00000500069.1:p.Pro48Arg
ENST00000672065.1:c.437C>G	ENSP00000500403.1:p.Pro146Arg
ENST00000672112.1:c.443C>G	ENSP00000500193.1:p.Pro148Arg
ENST00000672141.1:c.377C>G	ENSP00000500210.1:p.Pro126Arg
ENST00000672336.1:c.377C>G	ENSP00000500267.1:p.Pro126Arg
ENST00000672427.1:c.377C>G	ENSP00000500131.1:p.Pro126Arg
ENST00000672760.1:c.377C>G	ENSP00000500530.1:p.Pro126Arg
ENST00000672892.1:c.155C>G	ENSP00000499944.1:p.Pro52Arg
ENST00000673467.1:c.377C>G	ENSP00000500288.1:p.Pro126Arg
ENST00000673620.1:c.377C>G	ENSP00000500325.1:p.Pro126Arg
ENST00000303498.9:c.437C>G	ENSP00000306477.5:p.Pro146Arg
ENST00000383778.5:c.377C>G	ENSP00000373288.4:p.Pro126Arg
ENST00000436193.5:c.377C>G	ENSP00000394277.1:p.Pro126Arg
ENST00000437172.5:c.443C>G	ENSP00000400995.1:p.Pro148Arg
ENST00000449107.5:c.443C>G	ENSP00000388212.1:p.Pro148Arg
ENST00000482824.1:n.512C>G
NM_000060.3:c.437C>G	NP_000051.1:p.Pro146Arg
NM_001281723.1:c.443C>G	NP_001268652.1:p.Pro148Arg
NM_001281724.1:c.443C>G	NP_001268653.1:p.Pro148Arg
NM_001281725.1:c.377C>G	NP_001268654.1:p.Pro126Arg
NM_001281726.1:c.437C>G	NP_001268655.1:p.Pro146Arg
XM_006713314.2:c.377C>G	XP_006713377.1:p.Pro126Arg
XM_011534041.1:c.377C>G	XP_011532343.1:p.Pro126Arg
NM_000060.4:c.437C>G	NP_000051.1:p.Pro146Arg
NM_001281723.2:c.443C>G	NP_001268652.1:p.Pro148Arg
NM_001281724.2:c.443C>G	NP_001268653.1:p.Pro148Arg
NM_001281725.2:c.377C>G	NP_001268654.1:p.Pro126Arg
NM_001323582.1:c.377C>G	NP_001310511.1:p.Pro126Arg
XM_011534041.2:c.377C>G	XP_011532343.1:p.Pro126Arg
XM_017007088.1:c.377C>G	XP_016862577.1:p.Pro126Arg
XM_024453724.1:c.377C>G	XP_024309492.1:p.Pro126Arg
NM_001281723.3:c.377C>G	NP_001268652.2:p.Pro126Arg
NM_001281724.3:c.377C>G	NP_001268653.2:p.Pro126Arg
NM_001370658.1:c.377C>G MANE Select	NP_001357587.1:p.Pro126Arg
NM_001370752.1:c.377C>G	NP_001357681.1:p.Pro126Arg
NM_001370753.1:c.377C>G	NP_001357682.1:p.Pro126Arg
NM_001281726.2:c.377C>G	NP_001268655.2:p.Pro126Arg